Ceroid lipofuscin in Hermansky-Pudlak syndrome and neuronal ceroid lipofuscinoses.
Ceroid lipofuscin has been found to accumulate in body tissues in two types of storage disease, the Hermansky-Pudlak syndrome (HPS) and neuronal ceroid lipofuscinoses (NCL), which exhibit different clinical patterns and also differ as regards the site of pigment accumulation. The storage material in both diseases is similar physically and biochemically.
Puranen
M
M
University of Kuopio, Faculty of Dentistry, Finland.
D016115:Albinism, Oculocutaneous / Q000378:metabolism*; D002566:Ceroid / Q000032:analysis*; D006801:Humans; D008062:Lipofuscin / Q000032:analysis*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism*
D002566:Ceroid; D008062:Lipofuscin